Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Contiguous ABCD1/ DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss‐of‐function variants...

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Detalles Bibliográficos
Autores principales: Heath, Oliver, Pandithan, Dinusha, Pitt, James, Savva, Elena, Raiti, Laura, Bracken, Jenny, Vandeleur, Moya, Delatycki, Martin B., Yaplito‐Lee, Joy, Hardikar, Winita, Halligan, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494507/
https://www.ncbi.nlm.nih.gov/pubmed/37701323
http://dx.doi.org/10.1002/jmd2.12390

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